title: New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
abstract: A new homozygous alpha-sarcoglycan (adhalin) gene mutation was found in a Japanese patient with severe childhood autosomal recessive muscular dystrophy (SCARMD). Muscle biopsy specimens from the patient showed marked reduction but not complete deficiency of alpha-sarcoglycan. The sequence of part of exon 3 of the alpha-sarcoglycan gene exhibited a cytosine to thymidine substitution at nucleotide position 220. Since the same mutation was not found in 100 normal control samples, this new alpha-sarcoglycan gene mutation is not a polymorphism but is presumed to be responsible for the marked reduction of alpha-sarcoglycan in skeletal muscle. Most patients with homozygous alpha-sarcoglycan gene mutation were reported to show complete alpha-sarcoglycan deficiency. Present case showed the homozygous missense mutation of alpha-sarcoglycan and associated with incomplete alpha-sarcoglycan deficiency and severe clinical phenotype.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: H
authors.initials: H
authors.lastname: Iwaki
authors.forename: H
authors.initials: H
authors.lastname: Kawai
authors.forename: T
authors.initials: T
authors.lastname: Endo
authors.forename: M
authors.initials: M
authors.lastname: Kunishige
authors.forename: H
authors.initials: H
authors.lastname: Fukunaga
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: K
authors.initials: K
authors.lastname: Arimura
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000200:Action Potentials / Q000187:drug effects / Q000502:physiology; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics*; D004576:Electromyography; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000502:physiology*; D009431:Neural Conduction / Q000502:physiology; D016133:Polymerase Chain Reaction; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans